ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) (rs35227432)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179435 SCV000231681 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267921 SCV000428848 likely benign Collagen VI-related myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000179435 SCV000518291 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000987067 SCV000657265 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710905 SCV000841215 benign not provided 2017-12-19 criteria provided, single submitter clinical testing
Mendelics RCV000987067 SCV001136259 benign Bethlem myopathy 1 2019-05-28 criteria provided, single submitter clinical testing

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